Related Experiment Video

Updated: Feb 14, 2026

Measuring Neuromuscular Junction Functionality
10:40

Measuring Neuromuscular Junction Functionality

Published on: August 6, 2017

18.7K

Neuromuscular features of hypophosphatasia

C Fonta1, J-P Salles2

  • 1Centre de recherche cerveau et cognition (CERCO), université de Toulouse UPS; CNRS CERCO UMR 5549, pavillon Baudot, CHU Purpan, BP 25202, 31052 Toulouse Cedex 03, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|February 7, 2018
PubMed

Insights

The neuromuscular symptoms of hypophosphatasia (HPP) are not well understood. Research suggests the enzyme Alkaline Phosphatase (ALPL) may play a role in neurological and muscle issues seen in HPP patients.

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • The exact causes of neuromuscular issues in hypophosphatasia (HPP) are unknown.
  • Severe HPP in infants presents with pyridoxine-sensitive seizures, while hypotonia and muscle weakness affect all age groups.
  • Chronic pain is a common symptom with an unclear mechanism.

Purpose of the Study:

  • To explore the underlying pathophysiology of neuromuscular manifestations in hypophosphatasia.
  • To investigate the role of Alkaline Phosphatase (ALPL) in HPP-related neurological and muscular symptoms.

Main Methods:

  • Review of existing literature on HPP pathophysiology.
  • Analysis of the expression and function of ALPL in neuronal and muscle cells.
  • Examination of potential metabolic pathways involving ALPL, vitamin B6, and neurotransmitters.

Main Results:

  • ALPL is expressed in brain and muscle cells, suggesting a direct role in these tissues.
  • ALPL knockout impacts neuronal function in animal models.
  • Metabolic disruptions involving GABA and vitamin B6 metabolism are implicated.

Conclusions:

  • Understanding the neuromuscular pathophysiology of HPP is crucial.
  • Further research is needed to assess the potential of new therapies targeting ALPL or related pathways.

More Related Videos

In vitro Neuromuscular Junction Induced from Human Induced Pluripotent Stem Cells06:01

In vitro Neuromuscular Junction Induced from Human Induced Pluripotent Stem Cells

Published on: December 3, 2020

6.3K
Preparation of the Rat Vocal Fold for Neuromuscular Analyses07:17

Preparation of the Rat Vocal Fold for Neuromuscular Analyses

Published on: May 15, 2020

4.0K

Related Concept Videos

The Neuromuscular Junction01:19

The Neuromuscular Junction

The nervous system consists of complex motor neuron circuits, including upper motor neurons originating from the cerebral cortex and lower motor neurons starting in the spinal cord, coordinating both voluntary and involuntary movements. Among these, somatic motor neurons activate skeletal muscles and are classified into alpha, beta, and gamma types. Alpha neurons are vital for voluntary movement coordination, while gamma neurons adjust muscle spindle sensitivity, and the function of beta...
19.7K
Toxidromes: Clinical Features01:30

Toxidromes: Clinical Features

Toxidromes are specific patterns of symptoms resulting from toxic substance exposure. They help in the identification and treatment of poisoning. The symptoms of each toxidrome group indicate poisoning by a certain class of chemicals or drugs.1. Sympathomimetic: Stimulates the sympathetic nervous system. Symptoms include agitation, increased heart rate (HR), blood pressure (BP), respiratory rate (RR), temperature, and pupil size. Drugs like cocaine and amphetamines, along with tremors and...
17
Neuromuscular Junction And Blockade01:29

Neuromuscular Junction And Blockade

The site of chemical communication between a motor neuron and a muscle fiber is called the neuromuscular junction (NMJ). The end of the motor neuron at the NMJ divides into a cluster of synaptic end bulbs. The cytoplasm of these bulbs consists of synaptic vesicles enclosing acetylcholine molecules, the principal neurotransmitter released at the NMJ. The region opposite the synaptic bulb that ends in the muscle fiber is called the motor end plate, which has acetylcholine receptors. Within the...
5.1K
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
1.9K
Special Features of Adaptive Immunity01:20

Special Features of Adaptive Immunity

The adaptive immune system, a crucial component of the overall immune response, offers a highly specialized defense against pathogens. It involves specific cell types and features, enabling it to combat infections effectively and efficiently.
The primary cell types involved in adaptive immunity are T cells and B cells. Each type has a unique role in defending the body against pathogens. T cells are responsible for cell-mediated immunity. They identify and eliminate infected cells directly,...
3.5K
Esophageal Strictures-II: Clinical Features and Management01:26

Esophageal Strictures-II: Clinical Features and Management

Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
710